Cancer and the Secrets of Your Genes

An oncologist looks at the evidence for genetic testing in certain circumstances. This takes the conversation a step further.

On Aug. 6, researchers announced in The New England Journal of Medicine that they had found that mutations in a gene called PALB2 greatly increase the risk of breast cancer. This is one of the biggest developments since the discovery in the ’90s of the role of mutations in the BRCA1 and BRCA2 genes in breast and ovarian cancer.

The response among patients has been predictable. One woman’s email to me summed it up: “I’d like to get an entire genome scan to rule out a hidden cancer diagnosis.”

Despite the exaggerated claims of some entrepreneurs and lab owners, we can’t predict patients’ cancer risk and advise them appropriately just by sequencing their genome. At least not yet.